Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia.
Int J Immunogenet. 2011 Oct;38(5):419-26. doi: 10.1111/j.1744-313X.2011.01027.x. Epub 2011 Jul 29.
Polymorphisms in the CTLA-4 gene are known to be important in several autoimmune diseases, including multiple sclerosis (MS). Previous studies on the impact of CTLA-4 +49 A/G gene polymorphism have given contradictory results. We investigated the possible influence of this polymorphism on MS susceptibility and disease behaviour in Croatian and Slovenian populations. Genotyping was performed in 367 patients with MS and 480 control subjects using PCR-RFLP method. The G allele was present in 216 (58.9%) patients with MS vs. 282 (58.7%) healthy controls (P = 0.975, OR = 1.01, 95% CI = 0.76-1.32). No significant differences were observed in CTLA-4 +49 A or G allele distribution between patients and controls, indicating that this polymorphism does not influence susceptibility to MS in the surveyed populations. No correlation was observed between G allele carrier status and age at disease onset, disease course or severity.
CTLA-4 基因多态性在多种自身免疫性疾病中具有重要作用,包括多发性硬化症(MS)。先前关于 CTLA-4 +49 A/G 基因多态性影响的研究结果存在矛盾。我们研究了这种多态性对克罗地亚和斯洛文尼亚人群中 MS 易感性和疾病行为的可能影响。采用 PCR-RFLP 方法对 367 名 MS 患者和 480 名对照进行基因分型。G 等位基因在 216 名 MS 患者(58.9%)和 282 名健康对照者(58.7%)中存在(P=0.975,OR=1.01,95%CI=0.76-1.32)。患者和对照组之间 CTLA-4 +49 A 或 G 等位基因分布无显著差异,表明该多态性不影响所调查人群中 MS 的易感性。G 等位基因携带者状态与发病年龄、病程或严重程度之间无相关性。